Precision diabetes: learning from monogenic diabetes

por Hattersley, Andrew T., Patel, Kashyap A.
Publicado 2017

Systematic review of genotype-stratified treatment for monogenic insulin resistance

por Semple, Robert K., Patel, Kashyap A., Auh, Sungyoung, Brown, Rebecca J.
Publicado 2023

Genotype-stratified treatment for monogenic insulin resistance: a systematic review

por Semple, Robert K., Patel, Kashyap A., Auh, Sungyoung, Brown, Rebecca J.
Publicado 2023

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

por Şıklar, Zeynep, Kontbay, Tuğba, Colclough, Kevin, Patel, Kashyap A., Berberoğlu, Merih
Publicado 2023

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile

por Patel, Kashyap A, Burman, Shivang, Laver, Thomas W, Hattersley, Andrew T, Frayling, Timothy M, Weedon, Michael N
Publicado 2022

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metfor...

por Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
Publicado 2018

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy

por Patel, Kashyap A., Knight, Bridget, Aziz, Aftab, Babiker, Tarig, Tamar, Avades, Findlay, Joanna, Cox, Sue, Dimitropoulos, Ioannis, Tysoe, Carolyn, Panicker, Vijay, Vaidya, Bijay
Publicado 2018

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado 2020

SavvyCNV: Genome-wide CNV calling from off-target reads

por Laver, Thomas W., De Franco, Elisa, Johnson, Matthew B., Patel, Kashyap A., Ellard, Sian, Weedon, Michael N., Flanagan, Sarah E., Wakeling, Matthew N.
Publicado 2022

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

por Laver, Thomas W., Wakeling, Matthew N., Knox, Olivia, Colclough, Kevin, Wright, Caroline F., Ellard, Sian, Hattersley, Andrew T., Weedon, Michael N., Patel, Kashyap A.
Publicado 2022

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

por Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Publicado 2018

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

por Hewat, Thomas I., Yau, Daphne, Jerome, Joseph C. S., Laver, Thomas W., Houghton, Jayne A. L., Shields, Beverley M., Flanagan, Sarah E., Patel, Kashyap A.
Publicado 2021

MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea

por Ikäheimo, Kuu, Herranen, Anni, Iivanainen, Vilma, Lankinen, Tuuli, Aarnisalo, Antti A, Sivonen, Ville, Patel, Kashyap A, Demir, Korcan, Saarma, Mart, Lindahl, Maria, Pirvola, Ulla
Publicado 2021

Type 2 Diabetes and COVID-19–Related Mortality in the Critical Care Setting: A National Cohort Study in England, March–July 2020

por Dennis, John M., Mateen, Bilal A., Sonabend, Raphael, Thomas, Nicholas J., Patel, Kashyap A., Hattersley, Andrew T., Denaxas, Spiros, McGovern, Andrew P., Vollmer, Sebastian J.
Publicado 2021

The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes

por Thomas, Nicholas J., Walkey, Helen C., Kaur, Akaal, Misra, Shivani, Oliver, Nick S., Colclough, Kevin, Weedon, Michael N., Johnston, Desmond G., Hattersley, Andrew T., Patel, Kashyap A.
Publicado 2022

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

por Laver, Thomas W, Patel, Kashyap A, Colclough, Kevin, Curran, Jacqueline, Dale, Jane, Davis, Nikki, Savage, David B, Flanagan, Sarah E, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
Publicado 2018

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic

por Hopkins, Jasmin J, Childs, Alexandra J, Houghton, Jayne A L, Hewat, Thomas I, Atapattu, Navoda, Johnson, Matthew B, Patel, Kashyap A, Laver, Thomas W, Flanagan, Sarah E
Publicado 2022

Systematic Review of Treatment of Beta-Cell Monogenic Diabetes

por Naylor, Rochelle N., Patel, Kashyap A., Kettunen, Jarno L.T., Männistö, Jonna M.E., Støy, Julie, Beltrand, Jacques, Polak, Michel, Vilsbøll, Tina, Greeley, Siri A.W., Hattersley, Andrew T., Tuomi, Tiinamaija
Publicado 2023

Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India

por Harrison, James W., Tallapragada, Divya Sri Priyanka, Baptist, Alma, Sharp, Seth A., Bhaskar, Seema, Jog, Kalpana S., Patel, Kashyap A., Weedon, Michael N., Chandak, Giriraj R., Yajnik, Chittaranjan S., Oram, Richard A.
Publicado 2020

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

por Hughes, Alice E., Hayes, M. Geoffrey, Egan, Aoife M., Patel, Kashyap A., Scholtens, Denise M., Lowe, Lynn P., Lowe Jr, William L., Dunne, Fidelma P., Hattersley, Andrew T., Freathy, Rachel M.
Publicado 2021